Variant report

Variant	rs58464946
Chromosome Location	chr3:118622209-118622210
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:118621808..118624756-chr3:118628385..118630071,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11927719	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12487299	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12489856	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16829163	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1879552	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110368	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2110369	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2160052	0.92[EUR][1000 genomes]
rs2215811	0.92[EUR][1000 genomes]
rs2866317	0.91[EUR][1000 genomes]
rs36052974	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6765168	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6795936	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6802658	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73183699	0.92[EUR][1000 genomes]
rs73185803	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7610212	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9848979	0.92[EUR][1000 genomes]
rs9854506	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv822226	chr3:118621434-118622945	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118612200-118625600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:118614200-118625000	Weak transcription	Aorta	Aorta
3	chr3:118618200-118623400	Strong transcription	Brain Hippocampus Middle	brain
4	chr3:118619200-118623000	Weak transcription	Primary T cells from cord blood	blood
5	chr3:118619800-118624600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:118619800-118625000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr3:118619800-118651400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:118620200-118625400	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr3:118620200-118627200	Weak transcription	Fetal Brain Female	brain
10	chr3:118620200-118663200	Weak transcription	Pancreas	Pancrea
11	chr3:118620400-118622800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:118620400-118625200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:118621000-118623400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:118621400-118623000	Strong transcription	Brain Angular Gyrus	brain
15	chr3:118621400-118623400	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr3:118621400-118623400	Strong transcription	Brain Substantia Nigra	brain
17	chr3:118621400-118624000	Strong transcription	Brain Anterior Caudate	brain
18	chr3:118621400-118626800	Weak transcription	A549	lung
19	chr3:118621800-118622600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr3:118621800-118622600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:118621800-118630200	Weak transcription	Brain Germinal Matrix	brain
22	chr3:118622000-118624800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr3:118622000-118644600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:118622200-118625000	Weak transcription	Ovary	ovary

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